Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?

Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian pati...

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Detalles Bibliográficos
Autores principales: Touhami, Rahma, Foddha, Hajer, Alix, Eudeline, Jalloul, Afef, Mougou-Zerelli, Soumaya, Saad, Ali, Sanlaville, Damien, Haj Khelil, Amel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909830/
https://www.ncbi.nlm.nih.gov/pubmed/36778913
http://dx.doi.org/10.3389/fgene.2022.1061539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909830/
https://www.ncbi.nlm.nih.gov/pubmed/36778913
http://dx.doi.org/10.3389/fgene.2022.1061539

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